Canonical Allele Identifier: CA2466437753

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693175G= , CM000685.2:g.153693175G=	GRCh38
NC_000023.10:g.152958630G= , CM000685.1:g.152958630G=	GRCh37
NC_000023.9:g.152611824G=	NCBI36
NG_012016.1:g.9879G=
NG_012016.2:g.9879G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.912G= MANE Select	ENSP00000253122.5:p.Gln304=
ENST00000253122.9:c.912G=	ENSP00000253122.5:p.Gln304=
ENST00000413787.1:c.122G=	ENSP00000400463.1:p.Ser41=
ENST00000430077.6:c.567G=	ENSP00000403041.2:p.Gln189=
ENST00000467402.1:n.146-317G=
ENST00000485324.1:n.945G=
NM_001142805.1:c.912G=	NP_001136277.1:p.Gln304=
NM_001142806.1:c.567G=	NP_001136278.1:p.Gln189=
NM_005629.3:c.912G=	NP_005620.1:p.Gln304=
NM_005629.4:c.912G= MANE Select	NP_005620.1:p.Gln304=
NM_001142805.2:c.912G=	NP_001136277.1:p.Gln304=